Unique variants in the SOS1 gene

Information The variants shown are described using the NM_005633.3 transcript reference sequence.

152 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 1 ? c.? r.(?) p.? - pathogenic g.? - - - SOS1_000042 - PubMed: Barroso 2003 - - Unknown - - - - - LOVD
?/. 1 - c.64C>G r.(?) p.Leu22Val ACMG VUS g.39347500G>C g.39120359G>C - - SOS1_000156 - - - rs773916713 Germline - - - - - Andreas Laner
-?/. 1 - c.87+10A>G r.(=) p.(=) - likely benign g.39347467T>C g.39120326T>C SOS1(NM_005633.3):c.87+10A>G - SOS1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/?, -?/. 3 2 c.109A>G r.(?) p.(Thr37Ala) - likely benign, pathogenic g.39294873T>C g.39067732T>C SOS1(NM_005633.3):c.109A>G (p.T37A) - SOS1_000034, SOS1_000155 VKGL data sharing initiative Nederland, 1 more item PubMed: Lepri et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.137A>T r.(?) p.(Gln46Leu) - VUS g.39294845T>A g.39067704T>A - - SOS1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.169A>T r.(?) p.(Asn57Tyr) - VUS g.39294813T>A g.39067672T>A - - SOS1_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.195A>C r.(?) p.(Arg65=) - benign g.39294787T>G g.39067646T>G SOS1(NM_005633.3):c.195A>C (p.R65=) - SOS1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.213+14_213+16del r.(=) p.(=) - likely benign g.39294756_39294758del g.39067615_39067617del SOS1(NM_005633.3):c.213+14_213+16delTGT - SOS1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., ?/? 2 3 c.233T>G r.(?) p.(Phe78Cys) - benign, VUS g.39285926A>C g.39058785A>C SOS1(NM_005633.3):c.233T>G (p.F78C) - SOS1_000051, SOS1_000124 possible polymorphism, VKGL data sharing initiative Nederland PubMed: Zenker 2007 - - CLASSIFICATION record, De novo - - - - - VKGL-NL_AMC
?/. 1 - c.236C>G r.(?) p.(Pro79Arg) - VUS g.39285923G>C - SOS1(NM_005633.3):c.236C>G (p.(Pro79Arg)) - SOS1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.283G>A r.(?) p.(Glu95Lys) - likely benign g.39285876C>T g.39058735C>T - - SOS1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/?, +?/. 2 3 c.305C>G r.(?) p.(Pro102Arg) - likely pathogenic, pathogenic g.39285854G>C g.39058713G>C - - SOS1_000057 VKGL data sharing initiative Nederland PubMed: Denayer 2010 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+/+, +/?, +?/. 4 3 c.322G>A r.(?) p.(Glu108Lys) - likely pathogenic, pathogenic g.39285837C>T g.39058696C>T - - SOS1_000001 not in 310 control chromosomes, Original exon: 4, VKGL data sharing initiative Nederland PubMed: Lepri et al 2011, PubMed: Tartaglia 2007 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.323A>G r.(?) p.(Glu108Gly) - likely pathogenic g.39285836T>C g.39058695T>C SOS1(NM_005633.3):c.323A>G (p.E108G) - SOS1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+? 1 3 c.335C>G r.(?) p.(Pro112Arg) - pathogenic g.39285824G>C g.39058683G>C - - SOS1_000026 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
-?/. 1 - c.345+7C>T r.(=) p.(=) - likely benign g.39285807G>A g.39058666G>A - - SOS1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.345+12_345+13dup r.(=) p.(=) - likely benign g.39285801_39285802dup - SOS1(NM_005633.3):c.345+12_345+13dupCT - SOS1_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.345+15C>T r.(=) p.(=) - benign g.39285799G>A g.39058658G>A SOS1(NM_005633.3):c.345+15C>T - SOS1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+, +/., +/?, +?/. 5 4 c.508A>G r.(?) p.(Lys170Glu) - likely pathogenic, pathogenic g.39283845T>C g.39056704T>C SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E) - SOS1_000002, SOS1_000152 Original exon: 5, VKGL data sharing initiative Nederland PubMed: Ko 2008, PubMed: Lepri et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.511-18A>G r.(=) p.(=) - likely benign g.39281982T>C g.39054841T>C - - SOS1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.512T>G r.(?) p.(Val171Gly) - likely pathogenic g.39281963A>C g.39054822A>C SOS1(NM_005633.3):c.512T>G (p.V171G) - SOS1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.551A>G r.(?) p.(Asn184Ser) - likely benign g.39281924T>C - SOS1(NM_005633.3):c.551A>G (p.N184S) - SOS1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.570C>T r.(?) p.(Asp190=) - benign, likely benign g.39281905G>A g.39054764G>A SOS1(NM_005633.3):c.570C>T (p.D190=) - SOS1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 2 - c.571G>A r.(?) p.(Glu191Lys) - VUS g.39281904C>T g.39054763C>T SOS1(NM_005633.3):c.571G>A (p.E191K) - SOS1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.698A>G r.(?) p.(Asn233Ser) - likely benign g.39281777T>C - SOS1(NM_005633.3):c.698A>G (p.N233S) - SOS1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.749T>C r.(?) p.(Val250Ala) - benign g.39278400A>G - SOS1(NM_005633.3):c.749T>C (p.(Val250Ala)) - SOS1_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+?, +?/?, ?/. 3 6 c.755T>C r.(?) p.(Ile252Thr) - likely pathogenic, pathogenic, VUS g.39278394A>G g.39051253A>G SOS1(NM_005633.3):c.755T>C (p.I252T) - SOS1_000027 the consequences of the variant are functional, VKGL data sharing initiative Nederland, 1 more item Moncini et al., submitted to European Journal of Human Genetics, PubMed: Lepri et al 2011 - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Rotterdam, Paola Riva
+/+, +/., +/? 5 6 c.797C>A r.(?) p.(Thr266Lys) - pathogenic g.39278352G>T g.39051211G>T - - SOS1_000003, SOS1_000150 1 heterozygous, no homozygous; Clinindb (India), Original exon: 7, 1 more item PubMed: Ferrero 2008, OMIM:var0002, PubMed: Lepri et al 2011, PubMed: Roberts 2007, OMIM:var0002, 1 more item - rs137852812 CLASSIFICATION record, Germline, Unknown - 1/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.798A>C r.(?) p.(Thr266=) - likely benign g.39278351T>G g.39051210T>G - - SOS1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.800_811del r.(?) p.(Val267_Thr270del) - VUS g.39278342_39278353del - - - SOS1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +/? 3 6 c.806T>C r.(?) p.(Met269Thr) - pathogenic g.39278343A>G g.39051202A>G - - SOS1_000004, SOS1_000122 Original exon: 7, VKGL data sharing initiative Nederland PubMed: Lepri et al 2011, PubMed: Zenker 2007 - - CLASSIFICATION record, De novo, Unknown - - - - - VKGL-NL_Nijmegen
+/+, +/., +/? 6 6 c.806T>G r.(?) p.(Met269Arg) - pathogenic g.39278343A>C g.39051202A>C - - SOS1_000005, SOS1_000148 not in 310 control chromosomes, Original exon: 7, VKGL data sharing initiative Nederland PubMed: Lepri et al 2011, PubMed: Roberts 2007, OMIM:var0003, PubMed: Tartaglia 2007, OMIM:var0003, 1 more item - - CLASSIFICATION record, De novo, Unknown - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.821G>T r.(?) p.(Ser274Ile) - likely benign g.39278328C>A g.39051187C>A SOS1(NM_005633.3):c.821G>T (p.(Ser274Ile)) - SOS1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 7 c.925G>T r.(?) p.(Asp309Tyr) - pathogenic g.39262581C>A g.39035440C>A - - SOS1_000048 - PubMed: Roberts 2007, PubMed: Zenker 2007 - - De novo, Unknown - - - - - LOVD
-?/. 1 - c.929G>A r.(?) p.(Arg310His) - likely benign g.39262577C>T - SOS1(NM_005633.3):c.929G>A (p.R310H) - SOS1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.985G>A r.(?) p.(Glu329Lys) - VUS g.39262442C>T g.39035301C>T - - SOS1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1007A>G r.(?) p.(Gln336Arg) - VUS g.39262420T>C - SOS1(NM_005633.3):c.1007A>G (p.Q336R) - SOS1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 1 8 c.1010A>G r.(?) p.(Tyr337Cys) - pathogenic g.39262417T>C g.39035276T>C - - SOS1_000049 - PubMed: Roberts 2007 - - Germline - - - - - LOVD
-/., -?/. 2 - c.1018C>T r.(?) p.(Pro340Ser) - benign, likely benign g.39262409G>A g.39035268G>A - - SOS1_000179 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs190222208 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.1055A>G r.(?) p.(His352Arg) - likely benign g.39262372T>C g.39035231T>C - - SOS1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1066C>A r.(?) p.(Leu356Ile) - likely benign g.39262361G>T g.39035220G>T - - SOS1_000061 - PubMed: Abela 2016 - - Germline no - - - - Johan den Dunnen
-/., -?/. 5 - c.1074+5G>C r.spl? p.? - benign, likely benign g.39262348C>G g.39035207C>G SOS1(NM_005633.3):c.1074+5G>C (, p.?) - SOS1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+?/. 1 - c.1132A>G r.(?) p.(Thr378Ala) - likely pathogenic g.39251221T>C g.39024080T>C - - SOS1_000183 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397517146 Germline - 2/2740 individuals - - - Mohammed Faruq
-/., -?/. 3 - c.1203-20T>C r.(=) p.(=) - benign, likely benign g.39250386A>G g.39023245A>G SOS1(NM_005633.3):c.1203-20T>C - SOS1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC
-/., -?/. 2 - c.1230G>A r.(=), r.(?) p.(=), p.(Gln410=) - benign, likely benign g.39250339C>T g.39023198C>T SOS1(NM_005633.3):c.1230G>A (p.Q410=) - SOS1_000120 15 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs141390073 CLASSIFICATION record, Germline - 15/2794 individuals - - - VKGL-NL_VUmc, Mohammed Faruq
+/+? 1 10 c.1264A>G r.(?) p.(Met422Val) - pathogenic g.39250305T>C g.39023164T>C - - SOS1_000028 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
+/+? 1 10 c.1270G>A r.(?) p.(Glu424Lys) - pathogenic g.39250299C>T g.39023158C>T - - SOS1_000029 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
?/. 1 - c.1277A>C r.(?) p.(Gln426Pro) - VUS g.39250292T>G g.39023151T>G - - SOS1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 10 c.1281_1289del r.(?) p.(Lys427_Asp430delinsAsn) - pathogenic g.39250281_39250289del g.39023140_39023148del c.1281_1289delGAATATTGA - SOS1_000006 Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
?/. 1 - c.1285A>G r.(?) p.(Ile429Val) - VUS g.39250284T>C g.39023143T>C - - SOS1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1294T>A r.(?) p.(Trp432Arg) - likely pathogenic g.39250275A>T g.39023134A>T - - SOS1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +/? 5 10 c.1294T>C r.(?) p.(Trp432Arg) - pathogenic g.39250275A>G g.39023134A>G SOS1(NM_005633.3):c.1294T>C (p.W432R) - SOS1_000007 not in 310 control chromosomes, Original exon: 11, VKGL data sharing initiative Nederland PubMed: Hanna 2009, PubMed: Lepri et al 2011, PubMed: Tartaglia 2007, PubMed: Zenker 2007 - - CLASSIFICATION record, De novo, Germline, Unknown - - - - - VKGL-NL_Groningen
+/+ 1 10 c.1294_1299del r.(?) p.(Trp432_Glu433del) - pathogenic g.39250270_39250275del g.39023129_39023134del c.1294_1299delTGGGAG - SOS1_000008 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
+/+, +/., +/? 5 10 c.1297G>A r.(?) p.(Glu433Lys) - pathogenic g.39250272C>T g.39023131C>T - - SOS1_000009, SOS1_000143 not in 310 control chromosomes, Original exon: 11, VKGL data sharing initiative Nederland PubMed: Lepri et al 2011, PubMed: Tartaglia 2007, PubMed: Zenker 2007 - - CLASSIFICATION record, De novo, Unknown - - - - - VKGL-NL_Nijmegen
+/+, +/? 2 10 c.1300G>A r.(?) p.(Gly434Arg) - pathogenic g.39250269C>T g.39023128C>T - - SOS1_000010 Original exon: 11 PubMed: Lepri et al 2011, PubMed: Zenker 2007 - - De novo, Unknown - - - - - LOVD
+/? 1 10 c.1300G>C r.(?) p.(Gly434Arg) - pathogenic g.39250269C>G g.39023128C>G - - SOS1_000050 - PubMed: Roberts 2007 - - Unknown - - - - - LOVD
+/+ 1 10 c.1300_1301delinsAA r.(?) p.(Gly434Lys) - pathogenic g.39250268_39250269delinsTT g.39023127_39023128delinsTT c.1300_1301delGGinsAA - SOS1_000011 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
+/+, +/. 2 10 c.1310T>C r.(?) p.(Ile437Thr) - pathogenic g.39250259A>G g.39023118A>G - - SOS1_000012 VKGL data sharing initiative Nederland, 1 more item PubMed: Lepri et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1321T>C r.(?) p.(Cys441Arg) - likely pathogenic g.39250248A>G - SOS1(NM_005633.3):c.1321T>C (p.C441R) - SOS1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/? 3 10 c.1322G>A r.(?) p.(Cys441Tyr) - pathogenic g.39250247C>T g.39023106C>T - - SOS1_000013 not in 310 control chromosomes, Original exon: 11 PubMed: Lepri et al 2011, PubMed: Tartaglia 2007, PubMed: Zenker 2007 - - De novo, Unknown - - - - - LOVD
+?/. 1 - c.1352C>A r.(?) p.(Thr451Lys) - likely pathogenic g.39250217G>T g.39023076G>T - - SOS1_000205 - PubMed: Nair 2018 - rs730880218 Germline/De novo (untested) - - - - - Johan den Dunnen
+/+, +/? 2 10 c.1430A>G r.(?) p.(Gln477Arg) - pathogenic g.39250139T>C g.39022998T>C - - SOS1_000014 1 more item PubMed: Lepri et al 2011, PubMed: Longoni 2010 - - Unknown - - - - - LOVD
+/? 1 10 c.1431G>T r.(?) p.(Gln477His) - pathogenic g.39250138C>A g.39022997C>A - - SOS1_000052 2 de novo variants on same allele PubMed: Zenker 2007 - - De novo - - - - - LOVD
+/+, +/? 2 10 c.1433C>G r.(?) p.(Pro478Arg) - pathogenic g.39250136G>C g.39022995G>C - - SOS1_000015 Original exon: 11 PubMed: Lepri et al 2011, PubMed: Zenker 2007 - - De novo, Unknown - - - - - LOVD
+/? 2 10 c.1433C>T r.(?) p.(Pro478Leu) - pathogenic g.39250136G>A g.39022995G>A - - SOS1_000035 2 de novo variants on same allele, 1 more item PubMed: Lepri et al 2011, PubMed: Zenker 2007 - - De novo, Unknown - - - - - LOVD
+/? 1 10 c.1434_1442dup r.(?) p.(Arg479_Pro481dup) - pathogenic g.39250129_39250137dup g.39022988_39022996dup - - SOS1_000056 - PubMed: Narumi 2008 - - Unknown - - - - - LOVD
+/+? 1 10 c.1444G>C r.(?) p.(Gly482Arg) - pathogenic g.39250125C>G g.39022984C>G - - SOS1_000030 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
?/. 1 - c.1448C>T r.(?) p.(Ala483Val) - VUS g.39250121G>A - SOS1(NM_005633.3):c.1448C>T (p.A483V) - SOS1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1454A>G r.(?) p.(Asn485Ser) - likely benign g.39250115T>C g.39022974T>C SOS1(NM_005633.3):c.1454A>G (p.(Asn485Ser)) - SOS1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+? 1 10 c.1469T>G r.(?) p.(Leu490Arg) - pathogenic g.39250100A>C g.39022959A>C - - SOS1_000031 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
?/. 1 - c.1477A>G r.(?) p.(Lys493Glu) - VUS g.39250092T>C - - - SOS1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+?, +/? 2 10 c.1490G>A r.(?) p.(Arg497Gln) - pathogenic g.39250079C>T g.39022938C>T - - SOS1_000032 1 more item PubMed: Lepri et al 2011, PubMed: Longoni 2010 - - Unknown - - - - - LOVD
?/. 1 - c.1532A>G r.(?) p.(Lys511Arg) - VUS g.39250037T>C g.39022896T>C SOS1(NM_005633.3):c.1532A>G (p.K511R) - SOS1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1613T>C r.(?) p.(Met538Thr) - VUS g.39249956A>G g.39022815A>G - - SOS1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +/? 6 10 c.1642A>C r.(?) p.(Ser548Arg), p.Ser548Arg - pathogenic, pathogenic (dominant) g.39249927T>G g.39022786T>G - - SOS1_000016, SOS1_000142 not in 310 control chromosomes, Original exon: 11, VKGL data sharing initiative Nederland PubMed: Lepri et al 2011, PubMed: Roberts 2007, PubMed: Santoro 2018, PubMed: Tartaglia 2007 ClinVar-40678 - CLASSIFICATION record, De novo, Germline, Unknown yes - - - - VKGL-NL_Nijmegen, Giulio Piluso
+/? 1 10 c.1644T>G r.(?) p.(Ser548Arg) - pathogenic g.39249925A>C g.39022784A>C - - SOS1_000059 - PubMed: Hastings 2010 - - Unknown - - - - - LOVD
+/+? 1 10 c.1646C>A r.(?) p.(Thr549Lys) - pathogenic g.39249923G>T g.39022782G>T - - SOS1_000033 1 more item PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
+/., +/? 2 10 c.1649T>C r.(?) p.(Leu550Pro) - pathogenic g.39249920A>G g.39022779A>G - - SOS1_000043 not in 310 control chromosomes, VKGL data sharing initiative Nederland PubMed: Tartaglia 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
+/+, +/., +/? 13 10 c.1654A>G r.(?) p.(Arg552Gly), p.Arg552Gly ACMG pathogenic g.39249915T>C g.39022774T>C - - SOS1_000017, SOS1_000141 not in 310 control chromosomes, Original exon: 11, VKGL data sharing initiative Nederland, 1 more item PubMed: Lepri et al 2011, PubMed: Roberts 2007, OMIM:var0004, PubMed: Tartaglia 2007, OMIM:var0004, 1 more item - rs137852814 CLASSIFICATION record, De novo, Germline, Unknown - - - - - Andreas Laner, VKGL-NL_Nijmegen
+/+, +/., +/? 6 10 c.1655G>A r.(?) p.(Arg552Lys) - pathogenic g.39249914C>T g.39022773C>T SOS1(NM_005633.3):c.1655G>A (p.(Arg552Lys)) - SOS1_000018, SOS1_000140 not in 310 control chromosomes, Original exon: 11, VKGL data sharing initiative Nederland PubMed: Lepri et al 2011, PubMed: Tartaglia 2007, PubMed: Zenker 2007 - - CLASSIFICATION record, De novo, Germline, Unknown - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/+, +/? 2 10 c.1655G>C r.(?) p.(Arg552Thr) - pathogenic g.39249914C>G g.39022773C>G - - SOS1_000020 Original exon: 11 PubMed: Beneteau 2009, PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
+/+, +/. 2 10 c.1655G>T r.(?) p.(Arg552Met) - pathogenic g.39249914C>A g.39022773C>A SOS1(NM_005633.3):c.1655G>T (p.R552M) - SOS1_000019 VKGL data sharing initiative Nederland, 1 more item PubMed: Lepri et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Utrecht
+/+, +/., +/? 5 10 c.1656G>C r.(?) p.(Arg552Ser) - pathogenic g.39249913C>G g.39022772C>G - - SOS1_000021 1 heterozygous, no homozygous; Clinindb (India), not in 310 control chromosomes, Original exon: 11, 1 more item PubMed: Lepri et al 2011, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Tartaglia 2007 - rs267607079 CLASSIFICATION record, De novo, Germline, Unknown - 1/2786 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
+/? 3 10 c.1656G>T r.(?) p.(Arg552Ser) - pathogenic g.39249913C>A g.39022772C>A - - SOS1_000053 - PubMed: Mascheroni 2008, OMIM:var0005, PubMed: Zenker 2007 - - De novo, Germline - - - - - LOVD
?/. 1 - c.1658T>C r.(?) p.(Met553Thr) - VUS g.39249911A>G g.39022770A>G - - SOS1_000188 - - - - Germline - - - - - Andreas Laner
+/+ 1 10 c.1660_1673delinsAA r.(?) p.(Leu554_Met558delinsLys) - pathogenic g.39249896_39249909delinsTT g.39022755_39022768delinsTT - - SOS1_000022 Original exon: 11 PubMed: Lepri et al 2011 - - Unknown - - - - - LOVD
?/. 1 - c.1666G>A r.(?) p.(Val556Ile) - VUS g.39249903C>T - SOS1(NM_005633.3):c.1666G>A (p.V556I) - SOS1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1705C>G r.(?) p.(Leu569Val) - likely benign g.39249864G>C g.39022723G>C SOS1(NM_005633.3):c.1705C>G (p.L569V) - SOS1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.1727G>T r.(?) p.(Arg576Ile) - VUS g.39249842C>A - - - SOS1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1749A>G r.(?) p.(Glu583=) - likely benign g.39249820T>C g.39022679T>C SOS1(NM_005633.3):c.1749A>G (p.E583=) - SOS1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1811G>T r.(?) p.(Gly604Val) - pathogenic g.39249758C>A g.39022617C>A - - SOS1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1820T>C r.(?) p.(Ile607Thr) - likely benign g.39249749A>G g.39022608A>G SOS1(NM_005633.3):c.1820T>C (p.I607T) - SOS1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1854C>T r.(?) p.(Tyr618=) - likely benign g.39249715G>A g.39022574G>A SOS1(NM_005633.3):c.1854C>T (p.Y618=) - SOS1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1865A>G r.(?) p.(Asn622Ser) - VUS g.39241981T>C g.39014840T>C - - SOS1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +/? 2 11 c.1867T>A r.(?) p.(Phe623Ile) - pathogenic g.39241979A>T g.39014838A>T - - SOS1_000054, SOS1_000136 VKGL data sharing initiative Nederland PubMed: Zenker 2007 - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1913A>G r.(?) p.(Gln638Arg) - VUS g.39241933T>C g.39014792T>C - - SOS1_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -/?, -?/., ?/? 14 12 c.1964C>T r.(?) p.(Pro655Leu) - benign, likely benign, VUS g.39241107G>A g.39013966G>A SOS1(NM_005633.3):c.1964C>T (p.P655L, p.(Pro655Leu)) - SOS1_000040, SOS1_000115 1/310 control chromosomes, 380 control chromosomes tested, 381 control chromosomes tested, 5 more items Gunnar Houge (Bergen, Norway), PubMed: Narang 2020, Journal: Narang 2020, PubMed: Roberts 2007, 2 more items - rs56219475 CLASSIFICATION record, Germline, Unknown - 1/310, 1/380, 4/380, 5/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, Mohammed Faruq
-?/. 2 - c.1977T>A r.(?) p.(Asp659Glu) - likely benign g.39241094A>T g.39013953A>T SOS1(NM_005633.3):c.1977T>A (p.D659E) - SOS1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.2002C>G r.(?) p.(Gln668Glu) - likely benign g.39241069G>C g.39013928G>C SOS1(NM_005633.3):c.2002C>G (p.Q668E) - SOS1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +/? 3 13 c.2104T>C r.(?) p.(Tyr702His) - pathogenic g.39240664A>G g.39013523A>G - - SOS1_000044, SOS1_000134 not in 310 control chromosomes, VKGL data sharing initiative Nederland PubMed: Tartaglia 2007, PubMed: Zenker 2007 - - CLASSIFICATION record, De novo, Germline - - - - - VKGL-NL_Nijmegen
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